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CDH1-related diffuse gastric and lobular breast cancer syndrome

MedGen UID:
993691
Concept ID:
CN311521
Disease or Syndrome
Synonym: CDH1-related diffuse gastric and lobular breast cancer
 
Monarch Initiative: MONDO:0100488

Definition

Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women. [from MONDO]

Recent clinical studies

Etiology

Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simões-Correia J, van Krieken JH, Ligtenberg MJ, Figueiredo J, van Riel E, Sijmons RH, Plukker JT, van Hillegersberg R, Dekker E, Oliveira C, Cats A, Hoogerbrugge N; Dutch Working Group on Hereditary Gastric Cancer
Int J Cancer 2012 Jul 15;131(2):367-76. Epub 2011 Oct 23 doi: 10.1002/ijc.26398. PMID: 22020549

Diagnosis

Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simões-Correia J, van Krieken JH, Ligtenberg MJ, Figueiredo J, van Riel E, Sijmons RH, Plukker JT, van Hillegersberg R, Dekker E, Oliveira C, Cats A, Hoogerbrugge N; Dutch Working Group on Hereditary Gastric Cancer
Int J Cancer 2012 Jul 15;131(2):367-76. Epub 2011 Oct 23 doi: 10.1002/ijc.26398. PMID: 22020549

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